ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)

dbSNP: rs1439999698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594077 SCV000709287 uncertain significance not provided 2017-06-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000594077 SCV003815040 uncertain significance not provided 2022-06-24 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV003319384 SCV004023296 likely pathogenic GNE myopathy criteria provided, single submitter clinical testing

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